PRENATAL GENETIC DIAGNOSIS: Indications for Prenatal Diagnosis  
Risks  
DIAGNOSTIC PROCEDURES: Diagnostic Ultrasound  
Genetic Counseling  
Amniocentesis  
Alpha Fetoprotein Screening  
RISK ASSESSMENTS: UltraSound  
First Trimester Screening   
Second Trimester Screening  
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First Trimester Screening,
sometimes referrred to as Early Screening or Ultra-Screen, is a blood
test combined with an ultrasound exam that is used to identify pregnancies at increased risk for
three chromosome abnormalities: Down syndrome, Trisomy 13, and Trisomy 18. The ultrasound
is necessary to obtain a nuchal traslucency measurement, the measurement of a fluid-filled space
at the back of the fetal neck. In addition to this measurement, our ultra sonographers are two of
the few individuals in the state who are certified in examining the nasal bone, which increases the
detection rate. It is important to note that the results from this testing are not diagnostic. First
trimester screening can be completed between 11 weeks and 13 weeks gestation. Because this
testing does not screen for such birth defects as neural tube defects, it is recommended that a
maternal serum alpha-fetoprotein (AFP) level be drawn separately between 15 and 20 weeks
gestation. An anatomy ultrasound in this same time frame can also be used to screen for neural
tube defects as well as other anomalies.
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